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Results for "FGFR3"

Variant Events: 13

Gene
Gene symbol on which the variant is located
ID
Subject Identifier from the original study
Location
Genomic location of the reference allele
REF
Reference allele
ALT
Alternate allele
Context
Variant functional categories
Variant validation performed by an orthogonal method and reported
Inheritance
Reported inheritance status
Effects
Variant effect on transcript per Annovar
Transcript
Transcript used for the cDNA/Protein mutation
cDNA
cDNA variant notation
Protein
Protein variant notation
CADD-Phred v1.0
CADD phred-like score. This is phred-like rank score based on whole genome CADD raw scores
ExAC v0.3
ExAC population frequency (version 0.3)
Sources
Source(s) where variants from this event are reported
FGFR3     SP0142921chr4:
1795721-1795721		CTexonicDe novosynonymous SNVNM_000142
NM_001163213
NM_022965		c.C60T
c.C60T
c.C60T		p.A20A
p.A20A
p.A20A		--Fu2022 E
Trost2022 G
Zhou2022 GE
FGFR3     PN400287chr4:
1808636-1808636		GAexonicUnknownnonsynonymous SNVNM_022965
NM_000142
NM_001163213		c.G1913A
c.G2249A
c.G2255A		p.R638H
p.R750H
p.R752H		19.534.504E-5Leblond2019 E
FGFR3     mAGRE4093chr4:
1801537-1801541		CAGGTCexonicMaternalframeshift deletionNM_000142
NM_001163213
NM_022965		c.444_445del
c.444_445del
c.444_445del		p.T148fs
p.T148fs
p.T148fs		-7.759E-5Cirnigliaro2023 G
FGFR3     Valentino2021:14chr4:
1803571-1803571		CGexonicDe novononsynonymous SNVNM_000142
NM_001163213
NM_022965		c.C749G
c.C749G
c.C749G		p.P250R
p.P250R
p.P250R		16.65-Valentino2021 E
FGFR3     SP0076954chr4:
1803571-1803571		CGexonicDe novononsynonymous SNVNM_000142
NM_001163213
NM_022965		c.C749G
c.C749G
c.C749G		p.P250R
p.P250R
p.P250R		16.65-Fu2022 E
Trost2022 G
Zhou2022 GE
FGFR3     GEA416chr4:
1803571-1803571		CGexonicDe novononsynonymous SNVNM_000142
NM_001163213
NM_022965		c.C749G
c.C749G
c.C749G		p.P250R
p.P250R
p.P250R		16.65-Fu2022 E
FGFR3     SP0053359chr4:
1806119-1806119		GAexonicDe novononsynonymous SNVNM_000142
NM_001163213		c.G1138A
c.G1144A		p.G380R
p.G382R		19.38-Fu2022 E
Trost2022 G
Zhou2022 GE
FGFR3     SP0077712chr4:
1808468-1808468		TGintronicDe novo--Fu2022 E
FGFR3     Wang2023:718chr4:
1807363-1807363		AGexonicDe novononsynonymous SNVNM_022965
NM_000142
NM_001163213		c.A1276G
c.A1612G
c.A1618G		p.I426V
p.I538V
p.I540V		12.928.313E-6Wang2023 E
FGFR3     Hu2022:17chr4:
1807288-1807288		GAexonicMaternalnonsynonymous SNVNM_022965
NM_000142
NM_001163213		c.G1201A
c.G1537A
c.G1543A		p.D401N
p.D513N
p.D515N		12.095.012E-5Hu2022 T
FGFR3     2-1764-003chr4:
1808099-1808099		CGintronicDe novo--Trost2022 G
FGFR3     AU2463301chr4:
1794336-1794336		GAupstreamDe novo--Trost2022 G
FGFR3     SP0119569chr4:
1807502-1807502		CTexonicDe novosynonymous SNVNM_022965
NM_000142
NM_001163213		c.C1335T
c.C1671T
c.C1677T		p.Y445Y
p.Y557Y
p.Y559Y		-2.0E-4Trost2022 G
Source Variant Information

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Source:

Paper alias:

No records found.
Paper Information
Title
Authors
Technology
Variant source
Cohorts
Design
URL
Pubmed
Subject count
The number of subjects for this study could not be determined directly from the variant data; the value given is that reported by the authors in the publication.
Variant event count
Curation notesView
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